Enzyme replacement therapy for Fabry disease: some answers but more questions
نویسندگان
چکیده
منابع مشابه
Enzyme replacement therapy for Fabry disease: some answers but more questions
Fabry disease (FD) is a multisystem, X-linked disorder of glycosphingolipid metabolism caused by enzyme deficiency of α-galactosidase A. Affected patients have symptoms including acroparesthesias, angiokeratomas, and hypohidrosis. More serious manifestations include debilitating pain and gastrointestinal symptoms, proteinuria and gradual deterioration of renal function leading to end-stage rena...
متن کاملEnzyme replacement therapy for Anderson-Fabry disease.
BACKGROUND Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism. Progressive renal insufficiency is a major source of morbidity, additional complications result from cardio- and cerebro-vascular involvement. Survival is reduced among affected males and symptomatic female carriers. OBJECTIVES To evaluate the effectiveness and safety of enzyme replacement therapy compare...
متن کاملAnderson-Fabry disease: enzyme replacement therapy.
Sir, Anderson-Fabry disease is a metabolic lysosomal storage disease caused by a deficiency of the enzyme a-galactosidase A and inherited as an X-linked recessive trait. The progressive accumulation of glycosphingolipids (globotriaosylceramide, GB3) in blood, vessels and cells from several organs and tissues causes significant multi-systemic damage in homozygous males and in carrier females. Fo...
متن کاملEnzyme replacement therapy for Fabry disease: proving the clinical benefit.
Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of the enzyme a-galactosidase A (a-Gal A). The lack of a-Gal A leads to incomplete metabolism and progressive lysosomal accumulation of glycosphingolipids, particularly globotriaosylceramide (GL3). This process causes damage to endothelial, perithelial and smooth-muscle cells of the vascular system, glomerula...
متن کاملCost-effectiveness of enzyme replacement therapy for Fabry disease
BACKGROUND The cost-effectiveness of enzyme replacement therapy (ERT) compared to standard medical care was evaluated in the Dutch cohort of patients with Fabry disease. METHODS Cost-effectiveness analysis was performed using a life-time state-transition model. Transition probabilities, effectiveness data and costs were derived from retrospective data and prospective follow-up of the Dutch st...
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ژورنال
عنوان ژورنال: Therapeutics and Clinical Risk Management
سال: 2011
ISSN: 1178-203X
DOI: 10.2147/tcrm.s11987